What Is Down Syndrome? Down syndrome is a genetic condition that causes mild to significant physical and developmental problems. People with Down syndrome (DS) are born with an extra chromosome. Down Syndrome Meaning. Down syndrome is a genetic condition caused by the presence of an extra chromosome 21, leading to developmental delays, distinctive physical features, and often intellectual disabilities. Down syndrome is a genetic disorder caused by an extra copy of chromosome 21, which affects development, intelligence, and physical features. Learn about the diagnosis, treatment, prognosis, history, and frequency of Down syndrome from this comprehensive article. Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically.